"GeneDx"[submitter] AND "GJB4"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1247767	NM_153212.3(GJB4):c.-322-278T>C	GJB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340337	NM_153212.3(GJB4):c.64C>T (p.Arg22Cys)	GJB4 (R22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5008	NM_153212.3(GJB4):c.65G>A (p.Arg22His)	GJB4 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723469	NM_153212.3(GJB4):c.128T>C (p.Val43Ala)	GJB4 (V43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276227	NM_153212.3(GJB4):c.155_158del (p.Val52fs)	GJB4 (V52fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2499208	NM_153212.3(GJB4):c.154G>A (p.Val52Ile)	GJB4 (V52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250735	NM_153212.3(GJB4):c.186C>T (p.Asn62=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 5006	NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)	GJB4 (T85P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1303140	NM_153212.3(GJB4):c.292C>T (p.Arg98Cys)	GJB4 (R98C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2353756	NM_153212.3(GJB4):c.304G>A (p.Glu102Lys)	GJB4 (E102K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 774579	NM_153212.3(GJB4):c.384G>A (p.Trp128Ter)	GJB4 (W128*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 5004	NM_153212.3(GJB4):c.409T>C (p.Phe137Leu)	GJB4 (F137L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1236755	NM_153212.3(GJB4):c.451C>A (p.Arg151Ser)	GJB4 (R151S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2136097	NM_153212.3(GJB4):c.479G>A (p.Arg160His)	GJB4 (R160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 252789	NM_153212.3(GJB4):c.507C>G (p.Cys169Trp)	GJB4 (C169W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3366023	NM_153212.3(GJB4):c.569T>C (p.Met190Thr)	GJB4 (M190T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711908	NM_153212.3(GJB4):c.587T>C (p.Ile196Thr)	GJB4 (I196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195419	NM_153212.3(GJB4):c.611A>C (p.Glu204Ala)	GJB4 (E204A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1723746	NM_153212.3(GJB4):c.763G>C (p.Ala255Pro)	GJB4 (A255P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253120	NM_153212.3(GJB4):c.770C>T (p.Ser257Leu)	GJB4 (S257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195420	NM_153212.3(GJB4):c.*17A>G	GJB4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1265962	NM_153212.3(GJB4):c.*60A>C	GJB4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 22